S6C (p.Ser6Cys) variant of ABCG5 (Q9H222)
S6C (p.Ser6Cys) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- cosmic curated COSV53212
- gnomAD rs1315307010
- Missense
- Variant Prioritization Score for Impact Estimate 0.0566
- CADD 0.42
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available